Drozdowski W, Czerwińska-Ciechan K, Jankowicz E, Smigielska J
Kliniki Neurologicznej AM, Białymstoku.
Neurol Neurochir Pol. 1992 Sep-Oct;26(5):723-8.
The reported case was diagnosed in a girl aged 14, in whom the first signs developed at the age of 6, with progressive involvement of the cranial nerves IX, X, XI and XII, and V with VII. After ruling out other possible causes the diagnosis of the Fazio-Londe disease was established. Electromyographic examination confirming the diagnosis demonstrated also evidence of changes of neurogenic type in the muscles of upper extremities despite absence of demonstrable clinical abnormalities, which, as suggest the authors, may support the hypothesis of the similarity of the disease to other forms of spinal muscular atrophy, such as Werdnig-Hoffman and Kugelberg-Welander diseases.
该报告病例为一名14岁女孩，其最初症状出现在6岁时，逐渐累及第九、十、十一和十二对颅神经，以及第五和第七对颅神经。在排除其他可能病因后，确诊为法齐奥 - 隆德病。肌电图检查证实了诊断，同时也显示出上肢肌肉存在神经源性类型改变的证据，尽管没有明显的临床异常表现。作者认为，这可能支持该疾病与其他形式的脊髓性肌萎缩症（如韦尔纳格 - 霍夫曼病和库格尔贝格 - 韦兰德病）相似的假说。
